Canonical Allele Identifier: CA2615862159

Gene: ATM C11orf65

Linked Data

• gnomAD v4: 11-108347199-GGTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108347200_108347203del , CM000673.2:g.108347200_108347203del	GRCh38
NC_000011.9:g.108217927_108217930del , CM000673.1:g.108217927_108217930del	GRCh37
NC_000011.8:g.107723137_107723140del	NCBI36
NG_009830.1:g.129369_129372del , LRG_135:g.129369_129372del
NG_054724.1:g.127630_127633del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000452508.7:c.8585-79_8585-76del (ATM)	ENSP00000388058.2:n.8585-79_8585-76del
ENST00000713593.1:c.*8056-79_*8056-76del (ATM)	ENSP00000518889.1:n.*8056-79_*8056-76del
ENST00000278616.9:c.8585-79_8585-76del (ATM)	ENSP00000278616.4:n.8585-79_8585-76del
ENST00000638786.2:n.1283-79_1283-76del (ATM)
ENST00000682286.1:n.3342-79_3342-76del (ATM)
ENST00000682302.1:n.3003-79_3003-76del (ATM)
ENST00000683174.1:n.10069-79_10069-76del (ATM)
ENST00000683524.1:n.3809-79_3809-76del (ATM)
ENST00000684152.1:n.4001-79_4001-76del (ATM)
ENST00000684180.1:n.1059-79_1059-76del (ATM)
ENST00000684447.1:n.5078-79_5078-76del (ATM)
ENST00000527805.6:c.*3649-79_*3649-76del (ATM)	ENSP00000435747.2:n.*3649-79_*3649-76del
ENST00000675595.1:c.*3720-79_*3720-76del (ATM)	ENSP00000502563.1:n.*3720-79_*3720-76del
ENST00000675843.1:c.8585-79_8585-76del (ATM) MANE Select	ENSP00000501606.1:n.8585-79_8585-76del
ENST00000278616.8:c.8585-79_8585-76del (ATM)	ENSP00000278616.4:n.8585-79_8585-76del
ENST00000452508.6:c.8585-79_8585-76del (ATM)	ENSP00000388058.2:n.8585-79_8585-76del
ENST00000524755.5:c.227-11911_227-11908del (C11orf65)
ENST00000524792.5:n.4800-79_4800-76del (ATM)
ENST00000525178.5:n.73-79_73-76del (ATM)
ENST00000525729.5:c.641-38132_641-38129del (C11orf65)	ENSP00000433395.1:n.641-38132_641-38129del
ENST00000526725.1:n.272-6839_272-6836del (C11orf65)
ENST00000527531.5:c.*1196+7712_*1196+7715del (C11orf65)	ENSP00000431706.1:n.*1196+7712_*1196+7715del
ENST00000615746.4:c.*1196+7712_*1196+7715del (C11orf65)	ENSP00000483537.1:n.*1196+7712_*1196+7715del
NM_000051.3:c.8585-79_8585-76del , LRG_135t1:c.8585-79_8585-76del (ATM)	NP_000042.3:n.8585-79_8585-76del
XM_005271414.3:c.788-11911_788-11908del (C11orf65)	XP_005271471.1:n.788-11911_788-11908del
XM_005271415.3:c.732-11911_732-11908del (C11orf65)	XP_005271472.1:n.732-11911_732-11908del
XM_005271561.3:c.8585-79_8585-76del (ATM)	XP_005271618.2:n.8585-79_8585-76del
XM_005271562.3:c.8585-79_8585-76del (ATM)	XP_005271619.2:n.8585-79_8585-76del
XM_006718843.2:c.8585-79_8585-76del (ATM)	XP_006718906.1:n.8585-79_8585-76del
XM_006718845.1:c.4541-79_4541-76del (ATM)	XP_006718908.1:n.4541-79_4541-76del
XM_011542640.1:c.788-6839_788-6836del (C11orf65)	XP_011540942.1:n.788-6839_788-6836del
XM_011542643.1:c.732-6839_732-6836del (C11orf65)	XP_011540945.1:n.732-6839_732-6836del
XM_011542840.1:c.8585-79_8585-76del (ATM)	XP_011541142.1:n.8585-79_8585-76del
XM_011542841.1:c.8585-79_8585-76del (ATM)	XP_011541143.1:n.8585-79_8585-76del
XM_011542842.1:c.8420-79_8420-76del (ATM)	XP_011541144.1:n.8420-79_8420-76del
XM_011542843.1:c.8585-79_8585-76del (ATM)	XP_011541145.1:n.8585-79_8585-76del
XM_011542844.1:c.7541-79_7541-76del (ATM)	XP_011541146.1:n.7541-79_7541-76del
XM_011542845.1:c.7277-79_7277-76del (ATM)	XP_011541147.1:n.7277-79_7277-76del
XM_011542847.1:c.3656-79_3656-76del (ATM)	XP_011541149.1:n.3656-79_3656-76del
NM_001330368.1:c.641-38132_641-38129del (C11orf65)	NP_001317297.1:n.641-38132_641-38129del
NM_001351110.1:c.695-11911_695-11908del (C11orf65)	NP_001338039.1:n.695-11911_695-11908del
NM_001351834.1:c.8585-79_8585-76del (ATM)	NP_001338763.1:n.8585-79_8585-76del
NR_147053.2:n.2301+7712_2301+7715del (C11orf65)
XM_005271414.4:c.788-11911_788-11908del (C11orf65)	XP_005271471.1:n.788-11911_788-11908del
XM_005271415.4:c.732-11911_732-11908del (C11orf65)	XP_005271472.1:n.732-11911_732-11908del
XM_005271562.5:c.8585-79_8585-76del (ATM)	XP_005271619.2:n.8585-79_8585-76del
XM_006718843.4:c.8585-79_8585-76del (ATM)	XP_006718906.1:n.8585-79_8585-76del
XM_006718845.2:c.4541-79_4541-76del (ATM)	XP_006718908.1:n.4541-79_4541-76del
XM_011542640.2:c.788-6839_788-6836del (C11orf65)	XP_011540942.1:n.788-6839_788-6836del
XM_011542643.2:c.732-6839_732-6836del (C11orf65)	XP_011540945.1:n.732-6839_732-6836del
XM_011542840.3:c.8585-79_8585-76del (ATM)	XP_011541142.1:n.8585-79_8585-76del
XM_011542842.3:c.8420-79_8420-76del (ATM)	XP_011541144.1:n.8420-79_8420-76del
XM_011542843.2:c.8585-79_8585-76del (ATM)	XP_011541145.1:n.8585-79_8585-76del
XM_011542844.3:c.7541-79_7541-76del (ATM)	XP_011541146.1:n.7541-79_7541-76del
XM_011542845.2:c.7277-79_7277-76del (ATM)	XP_011541147.1:n.7277-79_7277-76del
XM_017017247.1:c.904-6839_904-6836del (C11orf65)	XP_016872736.1:n.904-6839_904-6836del
XM_017017789.2:c.8585-79_8585-76del (ATM)	XP_016873278.1:n.8585-79_8585-76del
XM_017017790.2:c.8585-79_8585-76del (ATM)	XP_016873279.1:n.8585-79_8585-76del
NM_001330368.2:c.641-38132_641-38129del (C11orf65)	NP_001317297.1:n.641-38132_641-38129del
NM_001351110.2:c.695-11911_695-11908del (C11orf65)	NP_001338039.1:n.695-11911_695-11908del
NM_001351834.2:c.8585-79_8585-76del (ATM)	NP_001338763.1:n.8585-79_8585-76del
NM_000051.4:c.8585-79_8585-76del (ATM) MANE Select	NP_000042.3:n.8585-79_8585-76del
NR_147053.3:n.2299+7712_2299+7715del (C11orf65)